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https://www.readbyqxmd.com/read/29148030/incidence-and-quantitative-analysis-of-dissociated-optic-nerve-fiber-layer-appearance-real-loss-of-retinal-nerve-fiber-layer
#1
Yoon J Kim, Kyoung S Lee, Soo G Joe, June-Gone Kim
PURPOSE: To assess the association between appearance of dissociated optic nerve fiber layer (DONFL) after internal limiting membrane (ILM) peeling and changes in the macular nerve fiber layer (NFL) area by spectral-domain optical coherence tomography (SD-OCT). METHODS: This study included 132 consecutive patients who had successfully undergone vitrectomy with ILM peeling for idiopathic epiretinal membrane or macular holes and had been followed up for ≥6 months...
November 4, 2017: European Journal of Ophthalmology
https://www.readbyqxmd.com/read/29146485/in-frame-variants-in-flna-proximal-rod-1-domain-associate-with-a-predominant-cardiac-valvular-phenotype
#2
Luis Fernández, Jair Tenorio, Coral Polo-Vaquero, Elena Vallespín, María Palomares-Bralo, Sixto García-Miñaúr, Fernando Santos-Simarro, Pedro Arias, Hernán Carnicer, Silvina Giannivelli, Juan Medina, Rosa Pérez-Piaya, Jorge Solís, Mónica Rodríguez, Alexandra Villagrá, Laura Rodríguez, Julián Nevado, Víctor Martínez-Glez, Karen E Heath, Pablo Lapunzina
INTRODUCTION AND OBJECTIVES: X-linked cardiac valvular dysplasia is a rare form of male-specific congenital heart defect mainly characterized by myxomatous degeneration of the atrioventricular valves with variable hemodynamic consequences. It is caused by genetic defects in FLNA-encoded filamin A, a widely expressed actin-binding protein that regulates cytoskeleton organization. Filamin A loss of function has also been associated with often concurring neurologic and connective tissue manifestations, with mutations in the first half of the Rod 1 domain apparently expressing the full cardiac phenotype...
November 13, 2017: Revista Española de Cardiología
https://www.readbyqxmd.com/read/29145736/longitudinal-study-of-the-activities-of-daily-living-and-quality-of-life-in-japanese-patients-with-fibrodysplasia-ossificans-progressiva
#3
Yasuo Nakahara, Hiroshi Kitoh, Yasuharu Nakashima, Junya Toguchida, Nobuhiko Haga
PURPOSE: Fibrodysplasia ossificans progressiva is a rare congenital disorder that causes systemic heterotopic ossification, leading to systemic ankyloses and mobility losses. This study aimed to ascertain the natural history of Fibrodysplasia ossificans progressiva. METHODS: In addition to the medical history questionnaire, patients aged 16 years and older were asked to complete activities of daily living and quality of life surveys using the Barthel Index, MOS 36-Item Short-Form Health Survey, and Health Assessment Questionnaire...
November 16, 2017: Disability and Rehabilitation
https://www.readbyqxmd.com/read/29145636/localization-and-functional-characterization-of-the-p-asn965ser-n965s-abca4-variant-in-mice-reveal-pathogenic-mechanisms-underlying-stargardt-macular-degeneration
#4
Laurie L Molday, Daniel Wahl, Marinko Sarunic, Robert S Molday
ABCA4 is a member of the superfamily of ATP-binding cassette (ABC) proteins that transports N-retinylidene-phosphatidylethanolamine (N-Ret-PE) across outer segment disc membranes thereby facilitating the removal of potentially toxic retinoid compounds from photoreceptor cells. Mutations in the gene encoding ABCA4 are responsible for Stargardt disease (STGD1), an autosomal recessive retinal degenerative disease that causes severe vision loss. To define the molecular basis for STGD1 associated with the p.Asn965Ser (N965S) mutation in the Walker A motif of nucleotide binding domain 1 (NBD1), we generated a p...
November 14, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/29145630/yaf9-subunit-of-the-nua4-and-swr1-complexes-targets-histone-h3k27ac-through-its-yeats-domain
#5
Brianna J Klein, Salar Ahmad, Kendra R Vann, Forest H Andrews, Zachary A Mayo, Gaelle Bourriquen, Joseph B Bridgers, Jinyong Zhang, Brian D Strahl, Jacques Côté, Tatiana G Kutateladze
Yaf9 is an integral part of the NuA4 acetyltransferase and the SWR1 chromatin remodeling complexes. Here, we show that Yaf9 associates with acetylated histone H3 with high preference for H3K27ac. The crystal structure of the Yaf9 YEATS domain bound to the H3K27ac peptide reveals that the sequence C-terminal to K27ac stabilizes the complex. The side chain of K27ac inserts between two aromatic residues, mutation of which abrogates the interaction in vitro and leads in vivo to phenotypes similar to YAF9 deletion, including loss of SWR1-dependent incorporation of variant histone H2A...
November 14, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/29145196/aqp2-abundance-is-regulated-by-the-e3-ligase-chip-via-hsp70
#6
Mariangela Centrone, Marianna Ranieri, Annarita Di Mise, Sante Princiero Berlingerio, Annamaria Russo, Peter M T Deen, Olivier Staub, Giovanna Valenti, Grazia Tamma
BACKGROUND/AIMS: AQP2 expression is mainly controlled by vasopressin-dependent changes in protein abundance which is in turn regulated by AQP2 ubiquitylation and degradation, however the proteins involved in these processes are largely unknown. Here, we investigated the potential role of the CHIP E3 ligase in AQP2 regulation. METHODS: MCD4 cells and kidney slices were used to study the involvement of the E3 ligase CHIP on AQP2 protein abundance by cell homogenization and immunoprecipitation followed by immunoblotting...
November 17, 2017: Cellular Physiology and Biochemistry
https://www.readbyqxmd.com/read/29144457/a-ubiquitin-dependent-signalling-axis-specific-for-alkbh-mediated-dna-dealkylation-repair
#7
Joshua R Brickner, Jennifer M Soll, Patrick M Lombardi, Cathrine B Vågbø, Miranda C Mudge, Clement Oyeniran, Renana Rabe, Jessica Jackson, Meagan E Sullender, Elyse Blazosky, Andrea K Byrum, Yu Zhao, Mark A Corbett, Jozef Gécz, Michael Field, Alessandro Vindigni, Geir Slupphaug, Cynthia Wolberger, Nima Mosammaparast
DNA repair is essential to prevent the cytotoxic or mutagenic effects of various types of DNA lesions, which are sensed by distinct pathways to recruit repair factors specific to the damage type. Although biochemical mechanisms for repairing several forms of genomic insults are well understood, the upstream signalling pathways that trigger repair are established for only certain types of damage, such as double-stranded breaks and interstrand crosslinks. Understanding the upstream signalling events that mediate recognition and repair of DNA alkylation damage is particularly important, since alkylation chemotherapy is one of the most widely used systemic modalities for cancer treatment and because environmental chemicals may trigger DNA alkylation...
November 16, 2017: Nature
https://www.readbyqxmd.com/read/29143738/bladder-cancer-associated-mutations-in-rxra-activate-peroxisome-proliferator-activated-receptors-to-drive-urothelial-proliferation
#8
Angela M Halstead, Chiraag D Kapadia, Jennifer Bolzenius, Clarence E Chu, Andrew Schriefer, Lukas D Wartman, Gregory R Bowman, Vivek K Arora
RXRA regulates transcription as part of a heterodimer with 14 other nuclear receptors, including the peroxisome proliferator-activated receptors (PPARs). Analysis from the TCGA raised the possibility that hyperactive PPAR signaling, either due to PPAR gamma gene amplification or RXRA hot-spot mutation (S427F/Y) drives 20-25% of human bladder cancers. Here we characterize mutant RXRA, demonstrating it induces enhancer/promoter activity in the context of RXRA/PPAR heterodimers in human bladder cancer cells. Structure-function studies indicate that the RXRA substitution allosterically regulates the PPAR AF2 domain via an aromatic interaction with the terminal tyrosine found in PPARs...
November 16, 2017: ELife
https://www.readbyqxmd.com/read/29143216/self-perception-and-determinants-of-color-vision-in-parkinson-s-disease
#9
Alexander U Brandt, Hanna G Zimmermann, Timm Oberwahrenbrock, Justine Isensee, Thomas Müller, Friedemann Paul
Visual dysfunction is common in patients with Parkinson's disease (PD). The objective of this study was to investigate the perceived impact of visual dysfunction and especially color vision loss on PD patients, and to identify retinal and disease factors associated with color vision. Thirty PD patients and thirty-four healthy controls were included. Participants performed the Farnsworth-Munsell Hue-100 test (FMT). Patients answered the National Eye Institute Visual Function Questionnaire (NEI-VFQ), Unified Parkinson's Disease Rating Scale (UPDRS) assessment, and underwent optical coherence tomography with measurement of retinal nerve fiber layer, ganglion cell layer + inner plexiform layer (GCIPL), and outer nuclear and photoreceptor layer...
November 15, 2017: Journal of Neural Transmission
https://www.readbyqxmd.com/read/29141951/selector-genes-display-tumor-cooperation-and-inhibition-in-drosophila-epithelium-in-a-developmental-context-dependent-manner
#10
Ram Prakash Gupta, Anjali Bajpai, Pradip Sinha
During animal development, selector genes determine identities of body segments and those of individual organs. Selector genes are also misexpressed in cancers, although their contributions to tumor progression per se remain poorly understood. Using a model of cooperative tumorigenesis, we show that gain of selector genes results in tumor cooperation, but in only select developmental domains of the wing, haltere and eye-antennal imaginal discs of Drosophila larva. Thus, the field selector, Eyeless (Ey), and the segment selector, Ultrabithorax (Ubx), readily cooperate to bring about neoplastic transformation of cells displaying somatic loss of the tumor suppressor, Lgl, but in only those developmental domains that express the homeo-box protein, Homothorax (Hth), and/or the Zinc-finger protein, Teashirt (Tsh)...
November 15, 2017: Biology Open
https://www.readbyqxmd.com/read/29141581/sanger-sequencing-in-exonic-regions-of-stk11-gene-uncovers-a-novel-de-novo-germline-mutation-c-962_963delcc-associated-with-peutz-jeghers-syndrome-and-elevated-cancer-risk-case-report-of-a-chinese-patient
#11
Zi-Ye Zhao, Yu-Liang Jiang, Bai-Rong Li, Fu Yang, Jing Li, Xiao-Wei Jin, Shou-Bin Ning, Shu-Han Sun
BACKGROUND: Peutz-Jeghers syndrome (PJS) is caused by mutations in the tumor suppressor gene, STK11, and is characterized by gastrointestinal hamartomas, melanin spots on the lips and the extremities, and an increased risk of developing cancer. CASE PRESENTATION: We reported an isolated PJS patient who died of colon cancer, whose blood sample was collected together with all the available family members'. The entire coding region of the STK11 gene was amplified by PCR and analyzed by Sanger sequencing, through which, a novel mutation, c...
November 15, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/29140325/six-pack-off-axis-holography
#12
Moran Rubin, Gili Dardikman, Simcha K Mirsky, Nir A Turko, Natan T Shaked
We present a new holographic concept, named six-pack holography (6PH), in which we compress six off-axis holograms into a single multiplexed off-axis hologram without loss of magnification or resolution. The multiplexed hologram contains straight off-axis fringes with six different orientations, and can be generated optically or digitally. We show that since the six different complex wavefronts do not overlap in the spatial frequency domain, they can be fully reconstructed. 6PH allows more than 50% improvement in the spatial bandwidth consumption when compared to the best multiplexing method proposed so far...
November 15, 2017: Optics Letters
https://www.readbyqxmd.com/read/29139551/members-of-the-deal-subfamily-of-the-duf1218-gene-family-are-required-for-bilateral-symmetry-but-not-for-dorsoventrality-in-arabidopsis-leaves
#13
David Wilson-Sánchez, Sebastián Martínez-López, Sergio Navarro-Cartagena, Sara Jover-Gil, José Luis Micol
Most plant leaves exhibit bilateral symmetry, which has been hypothesized as an inevitable consequence of the existence of the proximodistal and dorsoventral axes. No gene has been described that affects leaf bilateral symmetry but not dorsoventrality in Arabidopsis thaliana. We screened for viable insertional mutations that affect leaf morphology, and out of more than 700 mutants found only one, desigual1-1 (deal1-1), that exhibited bilateral symmetry breaking but no obvious defects in dorsoventrality. We found that deal1-1 is an allele of VASCULATURE COMPLEXITY AND CONNECTIVITY (VCC)...
November 15, 2017: New Phytologist
https://www.readbyqxmd.com/read/29138309/loss-of-popz-at-activity-in-agrobacterium-tumefaciens-by-deletion-or-depletion-leads-to-multiple-growth-poles-minicells-and-growth-defects
#14
Romain Grangeon, John Zupan, Yeonji Jeon, Patricia C Zambryski
Agrobacterium tumefaciens grows by addition of peptidoglycan (PG) at one pole of the bacterium. During the cell cycle, the cell needs to maintain two different developmental programs, one at the growth pole and another at the inert old pole. Proteins involved in this process are not yet well characterized. To further characterize the role of pole-organizing protein A. tumefaciens PopZ (PopZ At ), we created deletions of the five PopZ At domains and assayed their localization. In addition, we created a popZAt deletion strain (ΔpopZAt ) that exhibited growth and cell division defects with ectopic growth poles and minicells, but the strain is unstable...
November 14, 2017: MBio
https://www.readbyqxmd.com/read/29138279/the-secreted-neurotrophin-sp%C3%A3-tzle-3-promotes-glial-morphogenesis-and-supports-neuronal-survival-and-function
#15
Jaeda C Coutinho-Budd, Amy E Sheehan, Marc R Freeman
Most glial functions depend on establishing intimate morphological relationships with neurons. Significant progress has been made in understanding neuron-glia signaling at synaptic and axonal contacts, but how glia support neuronal cell bodies is unclear. Here we explored the growth and functions of Drosophila cortex glia (which associate almost exclusively with neuronal cell bodies) to understand glia-soma interactions. We show that cortex glia tile with one another and with astrocytes to establish unique central nervous system (CNS) spatial domains that actively restrict glial growth, and selective ablation of cortex glia causes animal lethality...
November 14, 2017: Genes & Development
https://www.readbyqxmd.com/read/29138278/a-cytoplasmic-compass-is-necessary-for-cell-survival-and-triple-negative-breast-cancer-pathogenesis-by-regulating-metabolism
#16
Lu Wang, Clayton K Collings, Zibo Zhao, Kira Alia Cozzolino, Quanhong Ma, Kaiwei Liang, Stacy A Marshall, Christie C Sze, Rintaro Hashizume, Jeffrey Nicholas Savas, Ali Shilatifard
Mutations and translocations within the COMPASS (complex of proteins associated with Set1) family of histone lysine methyltransferases are associated with a large number of human diseases, including cancer. Here we report that SET1B/COMPASS, which is essential for cell survival, surprisingly has a cytoplasmic variant. SET1B, but not its SET domain, is critical for maintaining cell viability, indicating a novel catalytic-independent role of SET1B/COMPASS. Loss of SET1B or its unique cytoplasmic-interacting protein, BOD1, leads to up-regulation of expression of numerous genes modulating fatty acid metabolism, including ADIPOR1 (adiponectin receptor 1), COX7C, SDC4, and COQ7 Our detailed molecular studies identify ADIPOR1 signaling, which is inactivated in both obesity and human cancers, as a key target of SET1B/COMPASS...
November 14, 2017: Genes & Development
https://www.readbyqxmd.com/read/29137252/a-novel-mutation-r190h-in-the-at-hook-1-domain-of-mecp2-identified-in-an-atypical-rett-syndrome
#17
Xiao Zhou, Yuangao Liao, Miaojing Xu, Zhong Ji, Yunqi Xu, Liang Zhou, Xiaoming Wei, Peiqian Hu, Peng Han, Fanghan Yang, Suyue Pan, Yafang Hu
Background: Mutations in Methyl-CpG binding protein 2 (MECP2) have been identified as the disease-causing mutations in Rett Syndrome (RTT). However, no mutation in the AT-hook 1 domain of MECP2 has been reported in RTT yet. The function of AT-hook 1 domain of MECP2 has not been described either. Methods: The clinical and radiological features of a girl with progressive hyperactivity and loss of acquired linguistic and motor functions were presented. Next generation sequencing was used to screen the causative gene...
October 10, 2017: Oncotarget
https://www.readbyqxmd.com/read/29135802/panretinal-photocoagulation-versus-ranibizumab-for-proliferative-diabetic-retinopathy-comparison-of-peripapillary-retinal-nerve-fiber-layer-thickness-in-a-randomized-clinical-trial
#18
Lee M Jampol, Isoken Odia, Adam R Glassman, Carl W Baker, Anjali M Bhorade, Dennis P Han, Glenn J Jaffe, Michele Melia, Neil M Bressler, Angelo P Tanna
PURPOSE: Compare changes in retinal nerve fiber layer (RNFL) thickness between eyes assigned to intravitreous ranibizumab or panretinal photocoagulation and assess correlations between changes in RNFL and visual field sensitivity and central subfield thickness. METHODS: Eyes with proliferative diabetic retinopathy were randomly assigned to ranibizumab or panretinal photocoagulation. Baseline and annual follow-up spectral domain optical coherence tomography RNFL imaging, optical coherence tomography macular imaging, and automated static perimetry (Humphrey visual field 60-4 algorithm) were performed...
November 10, 2017: Retina
https://www.readbyqxmd.com/read/29135728/internal-distraction-resulted-in-improved-patient-reported-outcomes-for-midface-hypoplasia
#19
David I Hindin, Corbin E Muetterties, Justine C Lee, Anand Kumar, Henry K Kawamoto, James P Bradley
BACKGROUND: Both internal and external distraction devices have been used successfully in correcting midface hypoplasia. Although the indication for surgery and the osteotomy techniques may be similar, deciding when to use internal versus external devices has not been studied. The authors studied patient-reported outcomes with FACE-Q and functional surveys for internal and external devices for midface distraction patients. METHODS: Patients who underwent distraction advancement after Le Fort I and Le Fort III were surveyed using the FACE-Q survey and a functional survey...
November 9, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/29134204/latent-membrane-protein-1-is-a-novel-determinant-of-epstein-barr-virus-genome-persistence-and-reactivation
#20
Elizabeth A Caves, Rachel M Butch, Sarah A Cook, Laura R Wasil, Chen Chen, Yuanpu Peter Di, Nara Lee, Kathy H Y Shair
Epstein-Barr virus (EBV) is a ubiquitous gammaherpesvirus that persistently infects humans, with nearly 95% seropositivity in adults. Infection in differentiating epithelia is permissive, but EBV-associated nasopharyngeal carcinoma (NPC) tumors harbor a clonal and nonproductive latent infection. However, in explanted NPC cultures and epithelial cell lines, episomal EBV genomes are frequently lost. The resulting unstable infection has hampered efforts to study the determinants of EBV persistence and latency in epithelial oncogenesis...
November 2017: MSphere
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